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Gaucher Disease

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Gaucher Disease is not the name you expected.

Disorder Subdivisions

None

General Discussion

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals develop few or no symptoms (asymptomatic); others may have serious complications. Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.

Gaucher disease is categorized as a lysosomal storage disorder (LSD). Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain sugar (glucose) containing fat, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the second most common type of lysosomal storage disorder. (Recent publications indicate that Fabry disease is the most prevalent LSD)

Supporting Organizations

Gauchers Association (UK)

Evesham House Business Centre

48/52 Silver Street

Gloucestershire, GL11 4ND

United Kingdom

Tel: 441453549231

Fax: 441453549231

Email: ga@gaucher.org.uk

Website: http://www.gaucher.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hide &#038; Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Website: http://www.hideandseek.org

Instituto de Errores Innatos del Metabolismo

Carrera 7 No 40 - 62

Bogota,

Colombia

Tel: 5713208320

Email: abarrera@javeriana.edu.co

Website: http://www.javeriana.edu.co/ieim/programas_ieim.htm

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

National Gaucher Foundation

2227 Idlewood Road, Suite 6

Tucker, GA 30084

USA

Tel: (770)934-2910

Fax: (770)934-2911

Tel: (800)504-3189

Email: ngf@gaucherdisease.org

Website: http://www.gaucherdisease.org

Proyecto Pide un Deseo México, i.a.p.

Altadena #59-501

Nápoles

Benito Juárez, 03810

México, D.F.

Tel: +52 55 5543-2447

Fax: 55-5543-5450

Email: info@pideundeseo.org

Website: http://www.pideundeseo.org

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

Email: info@thearc.org

Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300

France

Tel: 169754030

Fax: 160111583

Email: accueil@vml-asso.org

Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/28/2015Copyright 2014 National Organization for Rare Disorders, Inc.

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